FANCI

FANCI
Identifiers
Aliases	FANCI, KIAA1794, Fanconi anemia complementation group I, FA complementation group I
External IDs	OMIM: 611360; MGI: 2384790; HomoloGene: 49530; GeneCards: FANCI; OMA:FANCI - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	89,317,261 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	79,100,012 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; secondary oocyte; ; testicle; ; ganglionic eminence; ; right testis; ; left testis; ; gonad; ; bone marrow cells; ; rectum; ; trabecular bone;
	Top expressed in
	otic vesicle; ; otic placode; ; spermatocyte; ; saccule; ; spermatid; ; fetal liver hematopoietic progenitor cell; ; primary oocyte; ; secondary oocyte; ; epiblast; ; zygote;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	DNA binding; protein binding; DNA polymerase binding;
Cellular component	membrane; nucleus; nucleoplasm; cytosol;
Biological process	cell cycle; mitotic G2 DNA damage checkpoint signaling; positive regulation of protein ubiquitination; interstrand cross-link repair; cellular response to DNA damage stimulus; DNA repair;
	Sources:Amigo / QuickGO
Orthologs
	55215
	208836
	ENSG00000140525
	ENSMUSG00000039187
	Q9NVI1
	Q8K368
	NM_001113378; NM_018193; NM_001376910; NM_001376911
	NM_145946
	NP_001106849; NP_060663; NP_001363839; NP_001363840
	NP_666058
	Wikidata
View/Edit Human	View/Edit Mouse

Fanconi anemia, complementation group I (FANCI) also known as KIAA1794, is a protein which in humans is encoded by the FANCI gene.^[5]^[6]^[7]^[8]^[9] Mutations in the FANCI gene are known to cause Fanconi anemia.^[10]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000140525 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039187 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: FANCI".
^ Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (April 2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
^ Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, et al. (2007). "Identification of the Fanconi anemia complementation group I gene, FANCI". Cellular Oncology. 29 (3): 211–218. doi:10.1155/2007/151968. PMC 4618213. PMID 17452773.
^ Sims AE, Spiteri E, Sims RJ, Arita AG, Lach FP, Landers T, et al. (June 2007). "FANCI is a second monoubiquitinated member of the Fanconi anemia pathway". Nature Structural & Molecular Biology. 14 (6): 564–567. doi:10.1038/nsmb1252. PMID 17460694. S2CID 40947913.
^ Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER, Hurov KE, Luo J, et al. (April 2007). "Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair". Cell. 129 (2): 289–301. doi:10.1016/j.cell.2007.03.009. PMC 2175179. PMID 17412408.
^ Levitus M, Rooimans MA, Steltenpool J, Cool NF, Oostra AB, Mathew CG, et al. (April 2004). "Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes". Blood. 103 (7): 2498–2503. doi:10.1182/blood-2003-08-2915. PMID 14630800. S2CID 7033645.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000140525 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039187 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: FANCI".

[pmid11347906-6] Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (April 2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.

[pmid17452773-7] Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, et al. (2007). "Identification of the Fanconi anemia complementation group I gene, FANCI". Cellular Oncology. 29 (3): 211–218. doi:10.1155/2007/151968. PMC 4618213. PMID 17452773.

[pmid17460694-8] Sims AE, Spiteri E, Sims RJ, Arita AG, Lach FP, Landers T, et al. (June 2007). "FANCI is a second monoubiquitinated member of the Fanconi anemia pathway". Nature Structural & Molecular Biology. 14 (6): 564–567. doi:10.1038/nsmb1252. PMID 17460694. S2CID 40947913.

[9] Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER, Hurov KE, Luo J, et al. (April 2007). "Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair". Cell. 129 (2): 289–301. doi:10.1016/j.cell.2007.03.009. PMC 2175179. PMID 17412408.

[pmid14630800-10] Levitus M, Rooimans MA, Steltenpool J, Cool NF, Oostra AB, Mathew CG, et al. (April 2004). "Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes". Blood. 103 (7): 2498–2503. doi:10.1182/blood-2003-08-2915. PMID 14630800. S2CID 7033645.

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